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

Department of Pediatrics, Nishi-Kobe Medical Center, Kobe (KM), Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama (KI, SN), Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima (SO, MM, NI, MT, MK), and Department of Human Genome Technology, Kazusa DNA Research Institute, Kisarazu, Chiba (TK, OO), Japan

Correspondence: Kousaku Matsubara, MD, PhD, Department of Pediatrics, Nishi-Kobe Medical Center, 5-7-1 Kojidai, Nishi-ku, Kobe 651-2273, Japan. Tel: +81-78-997-2200, Fax: +81-78-993-3728 E-mail: kskmatsu{at}s4.dion.ne.jp

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.

Key words: developmental delay, epilepsy, HAX1 deficiency, severe congenital neutropenia.

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