Tags

Type your tag names separated by a space and hit enter

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
J Pediatr Endocrinol Metab. 2016 Sep 01; 29(9):1111-4.JP

Abstract

Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T>A splice site mutation on the FGD1 gene.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27544718

Citation

Parıltay, Erhan, et al. "A Novel Splice Site Mutation of FGD1 Gene in an Aarskog-Scott Syndrome Patient With a Large Anterior Fontanel." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 29, no. 9, 2016, pp. 1111-4.
Parıltay E, Hazan F, Ataman E, et al. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. J Pediatr Endocrinol Metab. 2016;29(9):1111-4.
Parıltay, E., Hazan, F., Ataman, E., Demir, K., Etlik, Ö., Özbek, E., & Özkan, B. (2016). A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. Journal of Pediatric Endocrinology & Metabolism : JPEM, 29(9), 1111-4. https://doi.org/10.1515/jpem-2015-0482
Parıltay E, et al. A Novel Splice Site Mutation of FGD1 Gene in an Aarskog-Scott Syndrome Patient With a Large Anterior Fontanel. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. PubMed PMID: 27544718.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. AU - Parıltay,Erhan, AU - Hazan,Filiz, AU - Ataman,Esra, AU - Demir,Korcan, AU - Etlik,Özdal, AU - Özbek,Erhan, AU - Özkan,Behzat, PY - 2016/01/15/received PY - 2016/07/18/accepted PY - 2016/8/22/entrez PY - 2016/8/22/pubmed PY - 2017/5/5/medline SP - 1111 EP - 4 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 29 IS - 9 N2 - Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T>A splice site mutation on the FGD1 gene. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/27544718/A_novel_splice_site_mutation_of_FGD1_gene_in_an_Aarskog_Scott_syndrome_patient_with_a_large_anterior_fontanel_ L2 - https://www.degruyter.com/doi/10.1515/jpem-2015-0482 DB - PRIME DP - Unbound Medicine ER -