ATR-16 syndrome

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Classification according to ICD-10
D56.0 Alpha thalassemia
ICD-10 online (WHO version 2019)

The ATR-16 syndrome is a rare hereditary disease with a combination of alpha-thalassemia with too small a head circumference ( microcephaly ) and mental retardation

Synonyms are:

  • Alpha thalassemia / mental retardation syndrome, deletion type  (as opposed to ATR-X syndrome as a non-deletion type)
  • Deletion Syndrome 16p
  • ATR, deletion type
  • Hemoglobin H-related Mental Retardation (HBHR)
  • Chromosome 16 p deletion syndrome

root cause

The disease is caused by a deletion on the short arm of chromosome 16 , which affects the genes HBA1 and HBA2 and is the cause of alpha thalassemia, as well as a defect in the SOX8 gene, which is the cause of mental retardation.

clinic

Clinically, in addition to signs of alpha thalassemia such as jaundice , hepato- and splenomegaly, microcephaly and mental retardation are found.

Differential diagnosis

The ATR-X syndrome must be differentiated due to the different genetic changes.

literature

  • E. Holinski-Feder, E. Reyniers, S. Uhrig, A. Golla, J. Wauters, P. Kroisel, P. Bossuyt, I. Rost, K. Jedele, H. Zierler, S. Schwab, D. Wildenauer, MR Speicher, PJ Willems, T. Meitinger, RF Kooy: Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t (3; 16) (q29; p13.3). In: American Journal of Human Genetics . Volume 66, Number 1, January 2000, pp. 16-25, ISSN  0002-9297 . doi : 10.1086 / 302703 . PMID 10631133 . PMC 1288322 (free full text).
  • NM Lindor, MG Valdes, M. Wick, SN Thibodeau, S. Jalal: De novo 16p deletion: ATR-16 syndrome. In: American journal of medical genetics. Volume 72, Number 4, November 1997, pp. 451-454, ISSN  0148-7299 . PMID 9375730 .
  • D. Pfeifer, F. Poulat, E. Holinski-Feder, F. Kooy, G. Scherer: The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. In: Genomics. Volume 63, Number 1, January 2000, pp. 108-116, ISSN  0888-7543 . doi : 10.1006 / geno.1999.6060 . PMID 10662550 .

Individual evidence

  1. ↑ a b ATR-16 syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links