Reviewers
(Source: Congenital Anomalies)
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Tags: Acknowledgement Source Type: research
Prevalence of isomerism from a European registry: Live births, fetal deaths, and terminations of pregnancy
(Source: Congenital Anomalies)
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Authors: Rohit S. Loomba Tags: Note Source Type: research
Syndromic microphthalmia ‐3 caused by a mutation on gene SOX2 in a Colombian male patient
Abstract
Syndromic microphthalmia‐3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4‐year‐old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia‐3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic test...
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Authors: Andr és Felipe Ramirez‐Botero, Harry Pachajoa Tags: Case Report Source Type: research
Issue Information
The meeting of the 56th annual meeting of the Japanese Teratology Society (JTS) was held on July 29 to 31 2016 in Himeji, Japan. Further details can be seen in the Overview by Watanabe in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - November 16, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Undernourishment in utero and hepatic steatosis in later life; A potential issue in Japanese people: A Review
Abstract
Non‐alcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. The prevalence of NAFLD in Japan has nearly doubled in the last 10‐15 years. Increasing evidence supports undernourishment in utero being causatively connected with the risk of NAFLD in later life. Low body mass index (BMI) has been common among Japanese women of childbearing age for several decades due to their strong desire to be thin. It is plausible that insufficient maternal energy intake by pregnant Japanese women may underlie the rapid increase in the prevalence of NAFLD in Japan. In order to clarify the mechanis...
Source: Congenital Anomalies - November 15, 2016 Category: Genetics & Stem Cells Authors: Hiroaki Itoh, Keiko Muramatsu ‐Kato, Urmi J. Ferdous, Yukiko Kohmura‐Kobayashi, Naohiro Kanayama Tags: Review Article Source Type: research
Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3
We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response. Case of 2q24.1q24.3 deletion with hearing impairment is quite rare. We suspect that hearing impairment is caused by bilateral cochlear nerve deficiency due to cochlear nerve canal stenosis. Further studies are necessary to evaluate hearing impairment as a clinical feature in patients with de novo heterozygous 2q24.1q24.3 deletion. (S...
Source: Congenital Anomalies - October 31, 2016 Category: Genetics & Stem Cells Authors: Hiroaki Ono, Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda Tags: Case Report Source Type: research
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader ‐Willi syndrome
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 31, 2016 Category: Genetics & Stem Cells Authors: Hironobu Okuno, Kazuhiko Nakabayashi, Kousei Abe, Takayuki Ando, Tsukasa Sanosaka, Jun Kohyama, Wado Akamatsu, Manabu Ohyama, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano Tags: Original Article Source Type: research
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 31, 2016 Category: Genetics & Stem Cells Authors: Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto Tags: Short Communication Source Type: research
Bilateral choanal atresia in an adult woman with pycnodysostosis
(Source: Congenital Anomalies)
Source: Congenital Anomalies - October 31, 2016 Category: Genetics & Stem Cells Authors: Ceren Damla Durmaz, Vedat Ta ş, Pınar Kocaay, Omer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi Tags: Note Source Type: research
MRI based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 25, 2016 Category: Genetics & Stem Cells Authors: Hehong Li, Huiying Liang, Huiying Wu Tags: Original Article Source Type: research
Patterns and risk factors of birth defects in rural areas of south ‐eastern Gabon
Abstract
Within the context of high neonatal mortality in sub‐Saharan Africa, a retrospective study was conducted on the prevalence of congenital malformations and the association between maternal risk factors and birth defects in rural populations of south‐eastern Gabon. Two populations were studied: a group of 3,500 births recorded in rural area (Koula‐Moutou) and a second group of 4,212 births in a semi‐rural area (Franceville) in Gabon. Our data showed an increasing prevalence in congenital anomalies from rural to urban areas (p < 0.001). Maternal risk factors such as age > 35 years, multiparity...
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Landry ‐Erik Mombo, Leslie‐Monica Yangawagou‐Eyeghe, Patrick Mickala, Jean Moutélé, Thierno‐Souleymane Bah, Damehan Tchelougou, Cyrille Bisseye Tags: Short Communication Source Type: research
A locus on chromosome 16 is significantly associated with increased tendency to lose pups in females of the RR/Sgn inbred mouse strain
Abstract
Females of the inbred mouse strain RR/Sgn have an apparent tendency to lose pups during rearing. To identify genes underlying this abnormal maternal phenotype, we performed quantitative trait loci (QTL) mapping in 349 (C57BL/6 J × RR/Sgn) F1 × RR/Sgn backcross mice and identified one significant and one suggestive QTL on chromosomes 16 and 4, respectively. We assigned the gene symbol nurturing ability QTL 3 (Naq3) to the QTL on chromosome 16. Twenty of the 21 mothers who lost entire litters were homozygous for RR/Sgn allele at Naq3; i.e., the significant association of Naq3 with pup loss was further co...
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Jun ‐ichi Suto Tags: Short Communication Source Type: research
Foxc2CreERT2 knock ‐in mice mark stage‐specific Foxc2‐expressing cells during mouse organogenesis
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Mohammed Badrul Amin, Naoyuki Miura, Mohammad Khaja Mafij Uddin, Mohammod Johirul Islam, Nobuaki Yoshida, Sachiko Iseki, Tsutomu Kume, Paul Trainor, Hirotomo Saitsu, Kazushi Aoto Tags: Original Article Source Type: research
Discordant ventriculo ‐arterial connections, or “transposition”, are not necessarily an essential part of isomerism
(Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Rohit S. Loomba, Robert H. Anderson Tags: Letter to the Editor 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 - August 31, 2016 Category: Genetics & Stem Cells Authors: Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato Tags: Case Report Source Type: research
