American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson
Although Laird G. Jackson, M.D., has mentored many individuals, most in the field of Medical Genetics, he remains inspirational and true to his basic tenets. This invited comment describes how he shaped the professional course of one of his “mentees.” © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Antonie D. Kline Tags: Commentary Source Type: research

Laird Jackson: Role model, mentor and friend
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Kathleen D. Valverde, Deborah Eunpu, Susan Moyer Harasink, Susan Koch, Vivian J. Weinblatt Tags: Commentary Source Type: research

Genome stability: What we have learned from cohesinopathies
Cohesin is a multiprotein complex involved in many DNA‐related processes such as proper chromosome segregation, replication, transcription, and repair. Mutations in cohesin gene pathways are responsible for human diseases, collectively referred to as cohesinopathies. In addition, both cohesin gene expression dysregulation and mutations have been identified in cancer. Cohesinopathy cells are characterized by genome instability (GIN) visualized by a constellation of markers such as chromosome aneuploidies, chromosome aberrations, precocious sister chromatid separation, premature centromere separation, micronuclei formation...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Francesco Cucco, Antonio Musio Tags: Research Review Source Type: research

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss
We report on a 4‐year‐old female who presented with unilateral sensorineural hearing loss and a concern for developmental delay. A genome‐wide SNP array analysis was performed and revealed a de novo 3.2 Mb interstitial deletion of chromosome 7q31.2q31.31. This region contains thirteen protein‐encoding genes. It is unknown whether haploinsufficiency of any of these genes is responsible for the clinical features of our patient. We reviewed, the clinical phenotype of a previously published 7q31.3 deletion patient and 18 additional patients with overlapping 7q31 deletions listed in the DECIPHER database. The most con...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 29, 2016 Category: Genetics & Stem Cells Authors: Jianhua Zhao, Sarah E. Noon, Ian D. Krantz, Yaning Wu Tags: Research Article Source Type: research

In Memoriam—A Salute to Dr. Carlos F. Salinas and Dr. Robert Goltz
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 11, 2016 Category: Genetics & Stem Cells Authors: Mary Fete Tags: In Memoriam Source Type: research

Gynecologic findings in Goltz syndrome: A case series
We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Some of our findings have been reported previously; however, some novel features including short perineum body not previously mentioned are noted as well. We recommend referral to a pediatric gynecologist for early evaluation of the reproductive tract as this can have an impact on the future fertility of these girls. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 1, 2016 Category: Genetics & Stem Cells Authors: Oluyemisi A. Adeyemi‐Fowode, Roshanak Mansouri, Jennifer E. Dietrich Tags: Research Article Source Type: research

International research symposium on Goltz syndrome
The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family‐oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine and Texas Children's Hospital. Goltz syndrome, or Focal Dermal Hypoplasia (FDH), is a highly variable X‐linked dominant disorder with abnormalities in tissues derived from the ectoderm and mesoderm. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular manifestations. FDH is caused by PORCN gene mutati...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 1, 2016 Category: Genetics & Stem Cells Authors: Timothy J. Fete, Mary Fete Tags: Introduction Source Type: research

Genetically engineered mouse models to evaluate the role of Wnt secretion in bone development and homeostasis
Alterations in components of the Wnt signaling pathway are associated with altered bone development and homeostasis in several human diseases. We created genetically engineered mouse models (GEMMs) that mimic the cellular defect associated with the Porcupine mutations in patients with Goltz Syndrome/Focal Dermal Hypoplasia. These GEMMs were established by utilizing mice containing a conditionally inactivatable allele of Wntless/GPR177 (a gene encoding a protein required for the transport of Porcupine‐modified ligand to the plasma membrane for secretion). We crossed this strain to another which drives cre‐mediated gene ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 28, 2016 Category: Genetics & Stem Cells Authors: Bart O. Williams Tags: Research Article Source Type: research

A family is born
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Deidre Garland Olsen Tags: Research Article Source Type: research

The orthopedic characterization of goltz syndrome
In this report, we summarize the clinical findings observed when we were afforded the unique opportunity to interview and physically examine 19 patients, the largest group of individuals with Goltz syndrome brought together in one place to date. The findings are intended to characterize the orthopedic phenotypic manifestations of Goltz syndrome. This collection of data revealed that the most common orthopedic findings were syndactyly (68%), ectrodactyly (68%), leg length discrepancy (57%), and reduction defects of long bones (52%). Nail irregularities were present in 89% of the patients seen. © 2016 Wiley Periodicals, Inc...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Amanda Smith, Thomas R. Hunt Tags: Research Article Source Type: research

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)
Goltz syndrome, caused by mutations in PORCN, is an X‐linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz‐affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X‐inact...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Alanna F. Bree, Dorothy K. Grange, M. John Hicks, Robert W. Goltz Tags: Research Article Source Type: research

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals
Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X‐linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi‐disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medica...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Bret Bostwick, Ping Fang, Ankita Patel, V. Reid Sutton Tags: Research Article Source Type: research

Oral phenotype and variation in focal dermal hypoplasia
This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro‐facial development. © 2016 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: John Timothy Wright, Chaitanya P. Puranik, Frank Farrington Tags: Research Article Source Type: research

Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz–Gorlin syndrome)
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X‐chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z‐scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), a...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Kathleen J. Motil, Mary Fete, Timothy J. Fete Tags: Research Article Source Type: research

Cognitive and psychological functioning in focal dermal hypoplasia
Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts the primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, and vision and hearing. To date, there has been no systematic research examining the psychoeducational impact of the disorder. The current study examined emotional, behavioral, adaptive, and intellectual ability in 17 subjects with ages ranging from 3 to 55 with FDH attending the 2013 Annual Family Conference of the National Foundation for Ectodermal Dysplasias. Findings suggested overall average ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2015 Category: Genetics & Stem Cells Authors: Kathleen K.M. Deidrick, Martha Early, Jordan Constance, Margot Stein, Timothy Fete Tags: Research Article Source Type: research