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NM_003865.3(HESX1):c.450_451del (p.Asp150fs) AND PITUITARY HORMONE DEFICIENCY, COMBINED, 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000008136.5

Allele description [Variation Report for NM_003865.3(HESX1):c.450_451del (p.Asp150fs)]

NM_003865.3(HESX1):c.450_451del (p.Asp150fs)

Gene:
HESX1:HESX homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p14.3
Genomic location:
Preferred name:
NM_003865.3(HESX1):c.450_451del (p.Asp150fs)
HGVS:
  • NC_000003.12:g.57198400_57198401del
  • NG_008242.1:g.6853_6854del
  • NM_003865.3:c.450_451delMANE SELECT
  • NP_003856.1:p.Asp150fs
  • NC_000003.11:g.57232428_57232429del
  • NM_003865.2:c.450_451del
Note:
NCBI staff reviewed the sequence information reported in PubMed 16940453 Fig. 4A to determine the location of this allele on the current reference sequence.
Protein change:
D150fs
Links:
OMIM: 601802.0007; dbSNP: rs587776664
NCBI 1000 Genomes Browser:
rs587776664
Molecular consequence:
  • NM_003865.3:c.450_451del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
PITUITARY HORMONE DEFICIENCY, COMBINED, 5 (CPHD5)
Identifiers:
MedGen: CN042968

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028341OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S.

J Clin Endocrinol Metab. 2006 Nov;91(11):4528-36. Epub 2006 Aug 29.

PubMed [citation]
PMID:
16940453

Details of each submission

From OMIM, SCV000028341.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Italian patient with congenital panhypopituitarism with anterior pituitary aplasia but normally located posterior pituitary and absence of optic nerve abnormalities (CHPD5; see 182230), Sobrier et al. (2006) found homozygosity for a deletion of 2 bp in exon 3 of the HESX1 gene, c.449_450delAC. Her parents and older sister, all with a normal phenotype, were heterozygous for the mutation. The mutation was predicted to result in deletion of 30% of the C-terminal part of the homeodomain and all following residues.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024