Variants in LMNB1 Cause Syndromic Microcephaly, Study Suggests

Jan, 2021 - By WMR

Variants in LMNB1 Cause Syndromic Microcephaly, Study Suggests

According to a new collaborative research study by the researchers of Greenwood Genetic Center (GGC) and international group of scientists from Spain, Italy and Belgium have reported to confirm that variants in LMNB1 are responsible for syndromic microcephaly with symptoms including intellectual disability variable short stature, and other neurological symptoms. The study involved seven patients from five families comprising novel de novo variants in LMNB1, exhibiting pronounced primary microcephaly as the essential feature. Moreover, these variants were recognized by utilizing exome sequencing.

In addition, researchers reported that functional analysis of each of the gene variants and resultant lamin B1 protein exhibited that that these variants function dominantly to dislocate nuclear envelope integrity that further propels the nucleus to become distorted.

Tonya Moss, co-lead author stated, "We used a HeLa cell system to analyze the three missense mutations in this gene and demonstrated impaired function of the nuclear lamina. Two other variants displayed misshapen nuclei and a decrease in nuclear localization of the lamin B1 protein, and another showed an increased frequency of condensed nuclei.”

Researchers also explained that as this gene variant encompasses multiple domains, hence different variants in LMNB1 are more likely to function by utilizing different mechanisms, requiring a case-by-case analysis of pathogenicity that can aid in the future treatment studies along with reproductive planning for families.

Happy To Assist You

Contact Images

We will be happy to help you find what you need. Please call us or write to us:

Contact us

Sales Office (U.S.):
Worldwide Market Reports, 1001 4th Ave, #3200 Seattle, WA 98154, U.S.


Asia Pacific Intelligence Center (India):
Worldwide Market Reports, 403, 4th Floor, Bremen Business Center, Aundh, Pune, Maharashtra 411007, India.


Want us to send you latest updates of the current trends, insights, and more, signup to our newsletter (for alerts, special offers, and discounts).

Secure Payment By:

This website is secured Origin CA certificate on the server, Comodo, Firewall and Verified Sitelock Malware Protection


© 2021 Worldwide Market Reports. All rights reserved