haemophagocytic lymphohistiocytosis, familial, type 1

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haemophagocytic lymphohistiocytosis, familial, type 1

A rare autosomal recessive disorder (OMIM:267700) characterised by immune dysregulation with hypercytokinaemia, defective NK cell activity, and massive infiltration of several organs by activated lymphocytes and macrophages.

Clinical findings
Fever, hepatosplenomegaly, cytopenia; less commmonly, neurologic defects ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

Molecular pathology
Thought to be caused defects in HPLH1, the HGNC-approved name for the putative gene on cytogenetic band 9q21.3-q22.
References in periodicals archive ?
RT-PCR analysis for myogenic markers including paired box 7 (PAX7), myogenic factor 5 (Myf5), myogenin (MyoG), four and a half LIM domains 1 (FHL1), and nuclear factor of activated T cells 1 (NFATcl) confirmed that horse muscle cells maintained myogenic features in vitro (Figure 2C).
In addition, other myoblast markers, Myf5, MyoD, MyoG, FHL1, and NFATcl, were expressed in horse muscle cells, indicating that the cell population possesses myogenic features observed in other mammals; however, further investigation is required (Figure 2C).
MyoD, myoblast determination protein; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; PAX7, paired box 7; Myf5, myogenic factor 5; MyoG, myogenin; FHL1, four and a half LIM domains 1; NFATcl, nuclear factor of activated T cells 1; D.W, distilled water.
Estrogen enhances activity of Wnt signaling during osteogenesis by inducing Fhl1 expression.
However effects on expression of 5 other genes, CDKN2C, FHL1, HGF, IL1RL1, CD53, are associated with tumor growth and carcinogenesis.
FHL1 is a locus first described in 1.999 following linkage analysis in 2 Pakistani families, although the gene remains unknown.
The blood or saliva test would identify mutations on the FHL1 gene in an effort to diagnose what the researchers have called X-linked myopathy with postural muscle atrophy.
To the Editor: The human four and a half LIM domain 1 ( FHL1 ) gene, located on Xq26.3, encodes for a protein with only LIM domains.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .
Our patient was similar to the young male patient described by Malfatti et al .,[sup][3] who was presented with HCM and muscle hypertrophy, and was identified with FHL1 mutation.
Less than 30 different FHL1 mutations have been reported so far.
The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle.