RYK Is Not Mutated in Autosomal Dominant Robinow Syndrome
نویسندگان
چکیده
منابع مشابه
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical signaling gene WNT5A underlie a subset of autosomal-dominant Robinow syndrome (DRS) cases, but most ...
متن کاملDVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon...
متن کاملDeletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.
To the Editor : Microdeletions at 1q41q42.1 have been described in patients with a variable phenotype that in some cases is suggestive of Fryns syndrome (FS) (1). We have described a similar microdeletion (2) in a boy (hereafter named Patient 1) with clinical features of the dominant form of Robinow syndrome (DRS; 3–5). Here, we report a girl (Patient 2; Fig1a-c) diagnosed as having DRS based o...
متن کاملClinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The freque...
متن کاملA case report on autosomal recessive Robinow syndrome.
BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2013
ISSN: 0021-9258
DOI: 10.1074/jbc.l112.439489