Letters to the editor
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43
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EDITOR
Over the past 12 years, 26 patients with
an unusual syndrome of congenital hypoparathyroidism associated with
severe prenatal and postnatal growth retardation and a pattern of
facial anomalies have been seen at the King Faisal Specialist Hospital and Research Centre, Saudi Arabia.1 2 The disorder has
been listed by McKusick in OMIM as
"hypoparathyroidism-retardation-dysmorphism syndrome; HRD" as entry
241410. Recently, Parvari et
al3 reported the assignment of the gene for this
disorder to chromosome 1 at 1q42-43. Their report was based on a study
of consanguineous Bedouin families from Israel and their linkage
analysis was based on homozygosity by descent.4 This
reports describes a study of three consanguineous Saudi families, which
yielded results consistent with the 1q42-43 location of the responsible gene.
Blood samples were collected and DNA extracted from three Saudi
families consisting of first cousin parents and their 14 children, five
of whom manifested the Sanjad-Sakati syndrome. DNA samples were pooled
from
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