Σάββατο, 23 Μαρτίου 2019

Medical Genetics

In This Issue
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Table of Contents, Volume 179A, Number 4, April 2019
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Genomic Screening in Newborns Holds Promise, Challenges: Results of the BabySeq Project demonstrate the potential of newborn genomic screening, but challenges remain
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Structural Basis Identified for Cholesterol Transport‐Like Activity of the Hedgehog Receptor Patched: New evidence suggests that the Hedgehog receptor Patched may mediate cholesterol removal from the inner leaflet of the plasma membrane using a hydrophobic conduit
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Cover Image, Volume 179A, Number 4, April 2019
The cover image is based on the Original Article Beckwith‐Wiedemann syndrome in diverse populations by Kelly A. Duffy et al., DOI: 10.1002/ajmg.a.61053.
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Publication schedule for 2019
American Journal of Medical Genetics Part A
Wed Mar 13, 2019 10:12
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that encodes the mitochondrial sulfur dioxygenase. It is characterized by neurodevelopmental delay and regression, pyramidal and extrapyramidal signs, recurrent petechiae, chronic diarrhea, and orthostatic acrocyanosis. Laboratory findings include elevated serum levels of lactate and C4‐C5 acylcarnitines, and elevated urinary excretion of ethylmalonic...
American Journal of Medical Genetics Part A
Tue Mar 12, 2019 20:37
Acute leukemia in a patient with 15q overgrowth syndrome
Overgrowth syndromes are rare genetic conditions which present as global or segmental hyperplasia and are sometimes associated with increased risk of malignancy. Trisomy of the terminal portion of 15q which includes the IGFR1 gene, produces a rare overgrowth phenotype that has been termed 15q overgrowth syndrome (15q OGS). Upregulation of IGF1R has long been implicated in oncogenesis of multiple cancer types, including acute leukemias, and has been shown to render cells more susceptible to other...
American Journal of Medical Genetics Part A
Tue Mar 12, 2019 21:54
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients
Abstract Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio‐facio‐cutaneous syndrome (N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r‐FLACC, Wang‐Baker scale, NPSI, BPI, NCCPC‐R) to detect and characterize...
American Journal of Medical Genetics Part A
Sun Mar 10, 2019 19:09
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor
The 2q37 deletion syndrome, also described in the literature as brachydactyly‐mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. Although the most commonly described hallmark features of the 2q37 deletion syndrome include brachydactyly type E, developmental delay, obesity, autistic features, and craniofacial or skeletal dysmorphism, a literature review of 101 published cases plus two newly reported...
American Journal of Medical Genetics Part A
Thu Mar 07, 2019 21:11
SATB2‐associated syndrome in patients from Japan: Linguistic profiles
Cleft palate can be classified as either syndromic or nonsyndromic. SATB2‐associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2‐associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2. Here, we report two patients with SATB2 truncating mutations (p.Arg239* and p.Asp702Thrfs*38) and one with a 4.4 megabase deletion including the SATB2...
American Journal of Medical Genetics Part A
Thu Mar 07, 2019 21:11
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency
Short chain enoyl‐CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. SCEH is most notably involved in valine catabolism, a deficiency of which results in various metabolic alterations, including increased levels of the highly reactive metabolite 2‐methacrylyl‐CoA. With no proven treatments available to date, it has been speculated that patients may respond to a valine restricted diet and/or N‐acetylcysteine...
American Journal of Medical Genetics Part A
Thu Mar 07, 2019 20:54
Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis
Neu–Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies. Clinical features include central nervous system malformations, joint contractures, ichthyosis, edema, and dysmorphic facial features. Biallelic pathogenic variants in either the PHGDH or PSAT1 genes have been shown to cause NLS. Using exome sequencing, we aimed to identify the underlying genetic diagnosis in three fetuses (from...
American Journal of Medical Genetics Part A
Tue Mar 05, 2019 21:55
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
ARID2 loss‐of‐function is associated with a rare genetic disorder characterized in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose non‐fermentable chromatin remodeling complex. Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin‐Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. Previously reported ARID2 mutations manifested clinically with a CSS‐like phenotype including intellectual...
American Journal of Medical Genetics Part A
Tue Mar 05, 2019 21:55

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