A novel familial autosomal dominant mutation inARID1Bcausing neurodevelopmental delays, short stature, and dysmorphic features

2016 ◽  
Vol 170 (12) ◽  
pp. 3313-3318 ◽  
Author(s):  
Joshua A. Smith ◽  
Kenton R. Holden ◽  
Michael J. Friez ◽  
Julie R. Jones ◽  
Michael J. Lyons
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Dysmorphic Features

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

scholarly journals Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Age Estimation ◽  
Bone Age ◽  
Review Of Literature ◽  
X Ray ◽  
Dysmorphic Features ◽  
The Past ◽  
Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

2010 ◽  
Vol 19 (3) ◽  
pp. 119-122
Author(s):  
Elke Verstraeten ◽  
Sofie Symoens ◽  
Marjolijn Renard ◽  
Bert Callewaert ◽  
Kristof Vandekerckhove ◽  
...  
Keyword(s):  
Short Stature ◽  
Aortic Root ◽  
Joint Laxity ◽  
Dysmorphic Features

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 67-77 ◽  
Author(s):  
Judith K. Stern ◽  
Mark S. Lubinsky ◽  
Daniel S. Durrie ◽  
John R. Luckasen ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Premature Birth ◽  
Autosomal Dominant

scholarly journals Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina.

1993 ◽  
Vol 13 (12) ◽  
pp. 7257-7266 ◽  
Author(s):  
C Carriere ◽  
S Plaza ◽  
P Martin ◽  
B Quatannens ◽  
M Bailly ◽  
...  
Keyword(s):  
Dna Binding ◽  
Autosomal Dominant ◽  
Paired Domain ◽  
Terminal Part ◽  
Dominant Mutation ◽  
Dna Binding Domains ◽  
Binding Domains ◽  
Carboxyl Terminal

After differential screening of a cDNA library constructed from quail neuroretina cells (QNR) infected with the v-myc-containing avian retrovirus MC29, we have isolated a cDNA clone, Pax-QNR, homologous to the murine Pax-6, which is mutated in the autosomal dominant mutation small eye of mice and in the disorder aniridia in humans. Here we report the characterization of the Pax-QNR proteins expressed in the avian neuroretina. From bacterially expressed Pax-QNR peptides, we obtained rabbit antisera directed against different domains of the protein: paired domain (serum 11), domain between the paired domain and homeodomain (serum 12), homeodomain (serum 13), and carboxyl-terminal part (serum 14). Sera 12, 13, and 14 were able to specifically recognize five proteins (48, 46, 43, 33, and 32 kDa) in the neuroretina. In contrast to proteins of 48, 46, and 43 kDa, proteins of 33 and 32 kDa were not recognized by the paired antiserum (serum 11). Paired-less and paired-containing proteins exhibited the same half-life (6 h) and were phosphorylated mostly on serine residues. Immunoprecipitations performed with subcellular fractions of neuroretinas showed that the paired-containing proteins were located in the nucleus, whereas the 33- and 32-kDa proteins were found essentially in the cytoplasmic compartment. However, immunofluorescence experiments performed after transient transfections showed that p46 and p33/32 were also located in vivo into the nucleus. Thus, the Pax-QNR/Pax-6 gene can produce proteins with two DNA-binding domains as well as proteins containing only the DNA-binding homeodomain.

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

scholarly journals Steatocystoma Multiplex of Scortum- Rare Genetic Disorder: A Case Report and Review of Literature

2016 ◽  
Vol 33 (4) ◽  
pp. 218-221
Author(s):  
Moni Mohan Saha ◽  
Sukumar Saha ◽  
Ratan Lal Datta Banik ◽  
Md Mokter Hossain
Keyword(s):  
Case Report ◽  
Microscopic Examination ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Review Of Literature ◽  
Dominant Mutation ◽  
College Hospital ◽  
Medical College ◽  
Steatocystoma Multiplex ◽  
Keratin 17

A 25 years old male attended the skin & VD outpatient department of Khulna Medical College Hospital on 16th June, 2013 with complaints of multiple asymptomatic small rounded firm, cystic nodules that are adherent to the overlying skin of scortum. The microscopic examination of the cystic nodules showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient. Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17; have been reported. We are reporting here a case of steatocystoma multiplex of scortum in a 25 years old male along with review of literature.J Bangladesh Coll Phys Surg 2015; 33(4): 218-221

scholarly journals Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK

2013 ◽  
Vol 110 (13) ◽  
pp. 5127-5132 ◽  
Author(s):  
H.-Y. Wang ◽  
C. A. Ma ◽  
Y. Zhao ◽  
X. Fan ◽  
Q. Zhou ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Antibody Deficiency ◽  
Dominant Mutation
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