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1.131 Aktuelle Fachpublikationen in American Journal of Medical Genetics Part A
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An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome
14.06.2013 | Emma Vernersson Lindahl, Elvin L. Garcia, Alea A. Mills, American Journal of Medical Genetics Part A, 2013
Abstract Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying ...
Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
29.05.2013 | Flore Zufferey, Smaïl Hadj‐Rabia, Annachiara De Sandre‐Giovannoli, Jean‐Louis Dufier, Bruno Leheup, Cyril Schweitze, ..., American Journal of Medical Genetics Part A, 2013
Abstract We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro‐osteolysis, diffuse keloid‐like lesions, and ocular pterygia. Facial features are progressive ...
Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group
29.05.2013 | Tomoki Kosho, Hideo Kuniba, Yuko Tanikawa, Yoko Hashimoto, Hiroko Sakurai, American Journal of Medical Genetics Part A, 2013
Abstract We conducted a questionnaire‐based study in collaboration with a Japanese trisomy 18 parental support group. Sixty‐five children (female, 68%) with full trisomy 18 were evaluated. Diagnosis was made prenatally in 17% (11/65) and 57% (37/65) were born following a cesarean. The ...
The Generalized Bone Phenotype in Children With Neurofibromatosis 1: A Sibling Matched Case–Control Study
25.05.2013 | Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, D ..., American Journal of Medical Genetics Part A, 2013
Abstract People with neurofibromatosis 1 (NF1) have low bone mineralization, but the natural history and pathogenesis are poorly understood. We performed a sibling‐matched case–control study of bone mineral status, morphology, and metabolism. Eighteen children with NF1 without focal bony ...
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes
25.05.2013 | Caroline Alby, Bettina Bessieres, Eric Bieth, Tania Attie‐Bitach, Laurent Fermont, Isabelle Citony, Ferechté Razavi, ..., American Journal of Medical Genetics Part A, 2013
Abstract We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease‐causing in Holt‐Oram and ulnar‐mammary syndromes, respectively. This contiguous gene syndrome is reminiscent ...
Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
25.05.2013 | Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noo ..., American Journal of Medical Genetics Part A, 2013
ABSTRACT Nephronophthisis associated ciliopathies (NPHP‐AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior–Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of ...
Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
23.05.2013 | Alex R. Paciorkowski, Kim Keppler‐Noreuil, Luther Robinson, Christopher Sullivan, Samin Sajan, Susan L. Christian, P ..., American Journal of Medical Genetics Part A, 2013
Abstract Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)‐like phenotype ...
Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
23.05.2013 | Yukiko Kondo, Eriko Koshimizu, Andre Megarbane, Haruka Hamanoue, Ippei Okada, Kiyomi Nishiyama, Hirofumi Kodera, Sat ..., American Journal of Medical Genetics Part A, 2013
Abstract Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA ...
Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1
23.05.2013 | Melanie Lacaria, Wenli Gu, James R Lupski, American Journal of Medical Genetics Part A, 2013
Abstract Smith–Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from an ∼3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2 or from ...
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients
23.05.2013 | Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko ..., American Journal of Medical Genetics Part A, 2013
Abstract Subtelomeric imbalances are a frequent cause of cytogenetic abnormalities in patients with unexplained intellectual disability. Functional disomy of Xq28 involving the methyl‐CpG‐binding protein 2 gene (MECP2) has been observed mostly in subtelomeric duplications. We identified ...
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