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Ma D, Marion R, Punjabi NP, et al. A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review. Mol Cytogenet. 2014;7(1):85doi: 10.1186/s13039-014-0085-4.
Ma, D., Marion, R., Punjabi, N. P., Pereira, E., Samanich, J., Agarwal, C., Li, J., Huang, C. K., Ramesh, K. H., Cannizzaro, L. A., & Naeem, R. (2014). A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review. Molecular cytogenetics, 7(1), 85. https://doi.org/10.1186/s13039-014-0085-4
Ma, Deqiong, et al. "A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review." Molecular cytogenetics vol. 7,1 (2014): 85. doi: https://doi.org/10.1186/s13039-014-0085-4
Ma D, Marion R, Punjabi NP, Pereira E, Samanich J, Agarwal C, Li J, Huang CK, Ramesh KH, Cannizzaro LA, Naeem R. A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review. Mol Cytogenet. 2014 Nov 26;7(1):85. doi: 10.1186/s13039-014-0085-4. eCollection 2014. PMID: 25484916; PMCID: PMC4256837.
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Mol Cytogenet. 2014 Nov 26;7(1):85. doi: 10.1186/s13039-014-0085-4. eCollection 2014.

A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.

Molecular cytogenetics

Deqiong Ma, Robert Marion, Netra Prasad Punjabi, Elaine Pereira, Joy Samanich, Chhavi Agarwal, Jianli Li, Chih-Kang Huang, K H Ramesh, Linda A Cannizzaro, Rizwan Naeem

Affiliations

  1. Molecular Pathology and Cytogenetics Lab, Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar Street, Bronx, NY 10461 USA.
  2. Department of Pediatrics, Children's Hospital at Montefiore, Bronx, NY USA.

PMID: 25484916 PMCID: PMC4256837 DOI: 10.1186/s13039-014-0085-4

Abstract

Reports of interstitial deletions involving proximal long arm of chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence of deletions at the ancestral chromosome fusion site at chromosome 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion at 2q13 has recently been proposed as a new genomic disorder, associated with an increased risk of intellectual disability and craniofacial dysmorphism. Herein, we report the case of a 12 year-old girl with unique clinical features including global developmental delay, mullerian agenesis, and hypothyroidism associated with a normal size and position of the thyroid gland, as well as negative thyroid antibodies. Microarray-based comparative genomic hybridization study revealed a de novo 10.79 Mb deletion at 2q13q14.2 (111,548,932-122,336,492), which involves more than 88 UCSC genes, 38 of which are OMIM genes, 7 of which are disease-causing and 3 of which (including GLI2, IL1B and PAX8) show a dominant inheritance pattern.. Interestingly, PAX8 (chr2:113,973,574-114,036,498), a member of the paired-box gene family, is essential for the formation of thyroxine-producing follicular cells. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8 suggests a possible haploinsufficiency effect. Additionally, PAX8 is also expressed in the tissue primordia that form both the mullerian duct derivatives and the upper urinary tracts. A recent study has associated a novel PAX8 mutation with a severe form of hypothyroidism and abnormalities in the urogenital tract. Taken together, the unique clinical manifestation seen in this patient could be attributed to the heterozygous deletion of PAX8 gene. A prospective investigation is merited to fully evaluate the pathogenic effect of the interstitial deletion of 2q13q14.2.

Keywords: Hypothyroidism; Interstitial deletion at 2q13q14.2; Mullerian agenesis

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