+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly



Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly



Journal of Medical Genetics 47(8): 538-548



Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is characterised by autosomal recessive inheritance, severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, Pelger-Huët anomaly of leucocytes, and optic atrophy with loss of visual acuity and colour vision. This new syndrome is designated as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome. To identify a causative gene for SOPH syndrome. Genomewide homozygosity mapping was conducted in 33 patients in 30 families. The disease locus was mapped to the 1.1 Mb region on chromosome 2p24.3, including the neuroblastoma amplified sequence (NBAS) gene. Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. None of the 203 normal Yakuts individuals had this substitution in the homozygous state. Immunohistochemical analysis revealed that the NBAS protein is well expressed in retinal ganglion cells, epidermal skin cells, and leucocyte cytoplasm in controls as well as a patient with SOPH syndrome. These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly.

(PDF emailed within 0-6 h: $19.90)

Accession: 054578978

Download citation: RISBibTeXText

PMID: 20577004

DOI: 10.1136/jmg.2009.074815


Related references

Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. Journal of Aapos, 2017

Short stature, optic nerve atrophy and Pelger-Hut anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review. Zhonghua Er Ke Za Zhi 55(12): 942-946, 2017

Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly. American Journal of Clinical Pathology 135(2): 291-303, 2011

Agnogenic myeloid metaplasia preceded by repeated leukemoid reactions and persistent acquired Pelger-Huët anomaly of granulocytes: case report with review of acquired Pelger-Huët anomaly. Cancer 50(8): 1498-1505, 1982

A phenocopy of the homozygous Pelger-Huët anomaly secondary to acute enteritis in a heterozygous Pelger-Huët patient. Acta Haematologica 70(4): 274-275, 1983

Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly. Caspian Journal of Internal Medicine 2(2): 245-248, 2011

Neutrophil dysplasia characterised by a pseudo-Pelger-Huet anomaly occurring with the use of mycophenolate mofetil and ganciclovir following renal transplantation: a report of five cases. Pathology 34(3): 263-266, 2002

Pelger-Huet anomaly with trisomy-18 syndrome. American Journal of Hematology 43(4): 328-329, 1993

Malabsorption syndrome in an infant with Pelger-Huet anomaly. Polski Tygodnik Lekarski 37(21): 613-614, 1982

Pelger-Huet nuclear anomaly and pseudo-Pelger anomaly. Haematologica 42(5): 527-546, 1957

Sjögren's syndrome in a patient with familial Pelger-Huët anomaly. Japanese Journal of Clinical Hematology 26(8): 1306-1310, 1985

Myelodysplastic syndrome in a patient with familial Pelger-Huet anomaly. Japanese Journal of Clinical Hematology 32(11): 1453-1457, 1991

Third case of Pelger-Huet anomaly in province of Poznan Pelger-like cells in Hodgkins disease. 1965

A gene for Pelger Huet anomaly maps to chromosome 1q41-43. American Journal of Human Genetics 67(4 Supplement 2): 324, October, 2000

Pelger-Huet anomaly associated with limited partial albinism. Cytochemical studies on Pelger's blood cells. Polskie Archiwum Medycyny Wewnetrznej 31: 583-588, 1961