SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly
Abstract
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluated families with inherited HPE. Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE. Using WES, we ruled out parental mosaicism, a SIX3 hypomorph, and clinically significant variants in genes that are known to interact with SIX3 as causes of incomplete penetrance. We demonstrate the i...
Source: Congenital Anomalies - July 1, 2017 Category: Genetics & Stem Cells Authors: Bethany Stokes, Seth I. Berger, Beth A. Hall, Karin Weiss, Donald W. Hadley, David R. Murdock, Subhadra Ramanathan, Robin D. Clark, Erich Roessler, Paul Kruszka, Maximilian Muenke Tags: Short Communication Source Type: research
Three ‐dimensional models of the segmented human fetal brain generated by magnetic resonance imaging
Congenital Anomalies,Volume 58, Issue 2, Page 48-55, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 11, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies,Volume 58, Issue 2, Page 48-55, March 2018. (Source: Congenital Anomalies)
Source: Congenital Anomalies - May 11, 2017 Category: Genetics & Stem Cells Source Type: research
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre ‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9
Abstract
Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.
Haploinsufficiency of TWIST1, a basic helix–loop–helix transcription factor is responsible for SCS. Here, we report a 15‐month‐old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9‐Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included. In comparison with previously reported patients, HDAC9 was suggeste...
Source: Congenital Anomalies - May 2, 2017 Category: Genetics & Stem Cells Authors: Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa Tags: Case Report Source Type: research
The Nutritional Role of Folate
Abstract
Folate functions as a coenzyme to transfer one‐carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring. It has als...
Source: Congenital Anomalies - May 1, 2017 Category: Genetics & Stem Cells Authors: Shuhei Ebara Tags: Invited Review Article Source Type: research
Genetic polymorphisms and folate status
ABSTRACT
Moderate hyperhomocysteinemia‐induced low folate status is an independent risk factor for cardiovascular disease, dementia, and depression. Folate is an essential cofactor in the one‐carbon metabolism pathway and is necessary in amino acid metabolism, purine and thymidylate synthesis, and DNA methylation. In the folate cycle and homocysteine metabolism, folate, vitamin B12, vitamin B6, and vitamin B2 are important cofactors. Many enzymes are involved in folate transport and uptake, the folate pathway, and homocysteine (Hcy) metabolism, and various polymorphisms have been documented in these enzymes. Serum fola...
Source: Congenital Anomalies - May 1, 2017 Category: Genetics & Stem Cells Authors: Mami Hiraoka, Yasuo Kagawa Tags: Invited Review Article Source Type: research
Three ‐dimensional models of the segmented human fetal brain generated by magnetic resonance imaging
Abstract
Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three‐dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5.2 to 225 mm in crown rump length) were used to reconstruct 3D models of regi...
Source: Congenital Anomalies - May 1, 2017 Category: Genetics & Stem Cells Authors: Yutaka Yamaguchi, Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada Tags: Original Article Source Type: research
Effects of environmental enrichment on the activity of the amygdala in micrencephalic rats exposed to a novel open field
Abstract
Environmental enrichment (EE) mediates recovery from sensory, motor, and cognitive deficits and emotional abnormalities. In the present study, we examined the effects of EE on locomotor activity and neuronal activity in the amygdala in control and methylazoxymethanol acetate (MAM)‐induced micrencephalic rats after challenge in a novel open field. Control rats housed in EE (CR) showed reduced locomotor activity compared to rats housed in a conventional cage (CC), whereas hyperactivity was seen in MAM rats housed in a conventional cage (MC) and in MAM rats housed in EE (MR).
Novel open field exposure in both CC an...
Source: Congenital Anomalies - May 1, 2017 Category: Genetics & Stem Cells Authors: Wakoto Matsuda, Ayuka Ehara, Kazuhiko Nakadate, Kanji Yoshimoto, Shuichi Ueda Tags: Original Article Source Type: research
A Say ‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome with a KAT6B 10‐base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome
Abstract
The Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype–phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 24, 2017 Category: Genetics & Stem Cells Authors: Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato Tags: Case Report Source Type: research
Issue Information
(Source: Congenital Anomalies)
Source: Congenital Anomalies - April 24, 2017 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg
(Source: Congenital Anomalies)
Source: Congenital Anomalies - April 24, 2017 Category: Genetics & Stem Cells Authors: Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz Tags: Note Source Type: research
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families
Abstract
Autosomal‐recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the LPAR6 gene revealed a nov...
Source: Congenital Anomalies - April 19, 2017 Category: Genetics & Stem Cells Authors: Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad Tags: Short Communication Source Type: research
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects
ABSTRACT
Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4‐Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one‐to‐one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative ...
Source: Congenital Anomalies - April 4, 2017 Category: Genetics & Stem Cells Authors: Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto Tags: Case Report Source Type: research
Co ‐occurrence of bronchial atresia and intrapulmonary sequestration in divergent lobes
(Source: Congenital Anomalies)
Source: Congenital Anomalies - March 24, 2017 Category: Genetics & Stem Cells Authors: Nilg ün Kanlıoğlu Kuman, Serdar Şen Tags: Note Source Type: research
Patient with a novel purine ‐rich element binding protein A mutation
We report a patient with a novel PURA mutation detected by whole‐exome sequencing. We suggest that PURA abnormality is a recognizable syndrome. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 24, 2017 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki Tags: Case Report Source Type: research
