NDLI: Novel no-stop FLNA mutation causes multi-organ involvement in males.

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Novel no-stop FLNA mutation causes multi-organ involvement in males.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Oegema, Renske Hulst, Jessie M. Theuns-Valks, Sabine D. M. Van Unen, Leontine M. A. Schot, Rachel Mancini, Grazia M. S. Schipper, Marguerite E. I. de Wit, Marie C. Y. Sibbles, Barbara J. de Coo, Irenaeus F. M. Nanninga, Veerle Hofstra, Robert M. W. Halley, Dicky J. J. Brooks, Alice S.
Description	Country affiliation: Netherlands Author Affiliation: Oegema R ( Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands. r.oegema@erasmusmc.nl)
Abstract	Mutations in FLNA (Filamin A, OMIM 300017) cause X-linked periventricular nodular heterotopia (XL-PNH). XL-PNH-associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic mosaicism have been reported to survive past infancy. Two brothers had an atypical presentation with failure to thrive and distinct facial appearance including hypertelorism. Evaluations of these brothers and their affected cousin showed systemic involvement including severe intestinal malfunction, malrotation, congenital short bowel, PNH, pyloric stenosis, wandering spleen, patent ductus arteriosus, atrial septal defect, inguinal hernia, and vesicoureteral reflux. The unanticipated finding of PNH led to FLNA testing and subsequent identification of a novel no-stop FLNA mutation (c.7941_7942delCT, p.(2648Serext100)). Western blotting and qRT-PCR of patients' fibroblasts showed diminished levels of protein and mRNA. This FLNA mutation, the most distal reported so far, causes in females classical XL-PNH, but in males an unusual, multi-organ phenotype, providing a unique insight into the FLNA-associated phenotypes.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	161A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2013-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Diagnosis Genetics Filamins Mutation, Missense Base Sequence Brain Pathology Facies Female Genotype Humans Infant Magnetic Resonance Imaging Male Pedigree Periventricular Nodular Heterotopia Phenotype Radiography Spleen Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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