Distal 16p11.2 microdeletion syndrome

MedGen UID:: 462051
•Concept ID:: C3150701
•: Disease or Syndrome

Synonyms:	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16; Chromosome 16p11.2 deletion syndrome, 220 kb

Monarch Initiative:	MONDO:0013267
OMIM®:	613444
Orphanet:	ORPHA261222

Definition

The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (608937), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010). An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see 611913) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity. For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641. [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDistal 16p11.2 microdeletion syndrome

Partial deletion of the short arm of chromosome 16
- Distal 16p11.2 microdeletion syndrome

Follow this link to review classifications for Distal 16p11.2 microdeletion syndrome in Orphanet.

Recent clinical studies

Etiology

Genetic and structural variation in the SH2B1 gene in the Belgian population.

Aerts E, Beckers S, Zegers D, Van Camp JK, Van Hoorenbeeck K, Massa G, Verrijken A, Mertens IL, Verhulst SL, Rooman RR, Van Gaal LF, Van Hul W
Mol Genet Metab 2015 Aug;115(4):193-8. Epub 2015 May 27 doi: 10.1016/j.ymgme.2015.05.010. PMID: 26031769

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.

Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C
J Med Genet 2011 Mar;48(3):197-204. Epub 2011 Jan 28 doi: 10.1136/jmg.2010.082412. PMID: 21278390 Free PMC Article

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM
Am J Med Genet A 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. PMID: 19676056

See all (3)

Diagnosis

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

González-Del Angel A, Alcántara-Ortigoza MA, Ramos S, Algara-Ramírez C, Hernández-Hernández MA, Saenger-Rivas L
Int J Mol Sci 2023 Sep 27;24(19) doi: 10.3390/ijms241914643. PMID: 37834089 Free PMC Article

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C
Eur J Hum Genet 2014 Mar;22(3):369-73. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.141. PMID: 23860047 Free PMC Article

See all (2)

Prognosis

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM
Am J Med Genet A 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. PMID: 19676056

See all (2)