Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency

被引：24

作者：

Matsubara, K. ^{[1
]}

Imai, K. ^{[2
]}

Okada, S. ^{[3
]}

Miki, M. ^{[3
]}

Ishikawa, N. ^{[3
]}

Tsumura, M. ^{[3
]}

Kato, T. ^{[4
]}

Ohara, O. ^{[4
]}

Nonoyama, S. ^{[2
]}

Kobayashi, M. ^{[3
]}

机构：

[1] Nishi Kobe Med Ctr, Dept Pediat, Kobe, Hyogo, Japan

[2] Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama, Japan

[3] Hiroshima Univ, Grad Sch Biomed Sci, Dept Pediat, Hiroshima, Japan

[4] Kazusa DNA Res Inst, Dept Human Genome Technol, Kisarazu, Chiba, Japan

来源：

HAEMATOLOGICA | 2007年 / 92卷 / 12期

关键词：

developmental delay; epilepsy; HAX1; deficiency; severe congenital neutropenia;

D O I：

10.3324/haematol.11973

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

HAX1 deficiency has recently been identified as a cause of severe congenital neutropenia (SCN), but little is known about the phenotype. We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. Notably, the patient has been complicated by epilepsy and severe delay of motor, cognitive, and intellectual development; each developmental quotient was 21-26 at 7 years old. Growth failure and dental development delay were also noted. Neurodevelopmental delay in this patient expands the clinical phenotype of HAX1 deficiency and suggests an important role of HAX1 on neural development as well as myelopoiesis.

引用

页码：E123 / E125

页数：3

共 19 条

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