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Crisponi/CISS1 syndrome: A case series.
Am J Med Genet A. 2016 May; 170A(5):1236-41.AJ

Abstract

Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features.

Authors+Show Affiliations

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Department of Medical Services-Birth Defect Registry (MSD-BDR) Office, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.Department of Pediatrics, Hospital Lillebaelt-Kolding, Kolding, Denmark.Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26804344

Citation

Alhashem, Amal M., et al. "Crisponi/CISS1 Syndrome: a Case Series." American Journal of Medical Genetics. Part A, vol. 170A, no. 5, 2016, pp. 1236-41.
Alhashem AM, Majeed-Saidan MA, Ammari AN, et al. Crisponi/CISS1 syndrome: A case series. Am J Med Genet A. 2016;170A(5):1236-41.
Alhashem, A. M., Majeed-Saidan, M. A., Ammari, A. N., Alrakaf, M. S., Nojoom, M., Maddirevula, S., Faqeih, E., Alkuraya, F. S., Garne, E., & Kurdi, A. M. (2016). Crisponi/CISS1 syndrome: A case series. American Journal of Medical Genetics. Part A, 170A(5), 1236-41. https://doi.org/10.1002/ajmg.a.37569
Alhashem AM, et al. Crisponi/CISS1 Syndrome: a Case Series. Am J Med Genet A. 2016;170A(5):1236-41. PubMed PMID: 26804344.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Crisponi/CISS1 syndrome: A case series. AU - Alhashem,Amal M, AU - Majeed-Saidan,Muhammad Ali, AU - Ammari,Amer N, AU - Alrakaf,Maha S, AU - Nojoom,Maha, AU - Maddirevula,Sateesh, AU - Faqeih,Eissa, AU - Alkuraya,Fowzan S, AU - Garne,Ester, AU - Kurdi,Ahmad M, Y1 - 2016/01/24/ PY - 2015/09/22/received PY - 2016/01/08/accepted PY - 2016/1/26/entrez PY - 2016/1/26/pubmed PY - 2017/1/5/medline KW - CISS1 KW - COG6 KW - CRLF1 KW - Crisponi syndrome KW - cold-induced sweating SP - 1236 EP - 41 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 170A IS - 5 N2 - Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26804344/Crisponi/CISS1_syndrome:_A_case_series_ L2 - https://doi.org/10.1002/ajmg.a.37569 DB - PRIME DP - Unbound Medicine ER -