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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Am J Med Genet A 2011; 155A(6):1336-51AJ

Abstract

Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome.

Authors+Show Affiliations

Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21548129

Citation

Burkardt, Deepika D'Cunha, et al. "Distinctive Phenotype in 9 Patients With Deletion of Chromosome 1q24-q25." American Journal of Medical Genetics. Part A, vol. 155A, no. 6, 2011, pp. 1336-51.
Burkardt DD, Rosenfeld JA, Helgeson ML, et al. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A. 2011;155A(6):1336-51.
Burkardt, D. D., Rosenfeld, J. A., Helgeson, M. L., Angle, B., Banks, V., Smith, W. E., ... Graham, J. M. (2011). Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. American Journal of Medical Genetics. Part A, 155A(6), pp. 1336-51. doi:10.1002/ajmg.a.34049.
Burkardt DD, et al. Distinctive Phenotype in 9 Patients With Deletion of Chromosome 1q24-q25. Am J Med Genet A. 2011;155A(6):1336-51. PubMed PMID: 21548129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. AU - Burkardt,Deepika D'Cunha, AU - Rosenfeld,Jill A, AU - Helgeson,Maria L, AU - Angle,Brad, AU - Banks,Valerie, AU - Smith,Wendy E, AU - Gripp,Karen W, AU - Moline,Jessica, AU - Moran,Rocio T, AU - Niyazov,Dmitriy M, AU - Stevens,Cathy A, AU - Zackai,Elaine, AU - Lebel,Robert Roger, AU - Ashley,Douglas G, AU - Kramer,Nancy, AU - Lachman,Ralph S, AU - Graham,John M,Jr Y1 - 2011/05/05/ PY - 2010/11/19/received PY - 2011/03/20/accepted PY - 2011/5/7/entrez PY - 2011/5/7/pubmed PY - 2011/9/21/medline SP - 1336 EP - 51 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 6 N2 - Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21548129/Distinctive_phenotype_in_9_patients_with_deletion_of_chromosome_1q24_q25_ L2 - https://doi.org/10.1002/ajmg.a.34049 DB - PRIME DP - Unbound Medicine ER -